Jump to content


Biomarker for Diffuse Scleroderma skin has been discovered!


Photo

First post, trying to sort things out


  • Please log in to reply
8 replies to this topic

#1 Dechri

Dechri

    Newbie

  • Members
  • Pip
  • 4 posts

Posted 23 March 2016 - 05:42 PM

Hi,
First, I appreciate being here. Two of my four kids have "rare diseases". Online support groups have been my savior, both through the diagnostic process, and everything that follows.

While I've spent excessive time over the year researching and learning to help manage my kids' chronic health problems, I've admittedly taken care of myself much less that I should've. I've been a pretty healthy adult without any real notable issues (health issues anyway, lol!). The last 5 years have been a whirl wind with my kids' medical problems and I've pretty much lived on adrenaline. The last year has been calmer; I've been on a solid sleep, exercise, self care initiative to try and get my pep back. A year or so ago I went to the doctor because my thick hair was falling out dramatically, I had been hit with weird fatigue patterns, and I started having regular abnormal bleeding that a full set of testing from the OB/GYN couldn't explain. A basic complete blood count and metabolic panel were normal and I wrote it off as stress.

Fast forward to 2-3 months ago. I started having weird joint swelling on my feet, which I blew off as bone spurs (put buy new shoes on my to do list). Then my fingers started aching and stiffening a bit. A month ago I started having bad bruising on all of the area that hurt on my feet. Went to the podiatrist who freaked at the bruising and sent me to the general practitioner for labs. He said X-rays showed fluid and obvious swelling, a couple very minor bone spurs but nothing to cause this. I also started getting spots of dark hard skin on my feet around knuckles and boney parts that I ignored as sudden callouses. Then my hands and feet that have been very cold sensitive this last year, started having discoloration that my GP said was Raynaud's. My fingers are now stiffening, dark areas around knuckles and tiny red blood vessels look irritated at the base of my nails. My knuckles almost appear to be flattening. Small bruises are popping up on my hands.

My doctor sent a referral to a rheumatologist and orders labs, complete blood count, metabolic panel, ANA, SED rate, uric acid and some others. All came back totally normal. She was shocked. She is my age, has lupus and is very autoimmune disease savvy. Scleroderma was mentioned by the podiatrist and my GP just says I still need to get to a rheumatologist.

I'm honestly a bit petrified, having kids that have such consuming chronic health problems, and needing me to be well. Having gone through this stuff with my kids, part of me wants to ignore it because rationally labs show no indicators. But part of me knows something is wrong and continuing to worsen, and not having answers is awful.

So I may not belong here at all. I'm not sure if looking for reassurance that it likes isn't Scleroderma, or that even negative labs doesn't rule it out. Regardless, I just want all the answers to be able to help myself as best I can.

I'm mostly just venting, but any wisdom would be wonderful. I'm not sure if these joint and skin changes are common with scleroderma.

Thanks so much.
 



#2 Kathy D

Kathy D

    Silver Member

  • Members
  • PipPipPipPip
  • 242 posts
  • Location:Rocky Mountains USA

Posted 24 March 2016 - 04:58 PM

 Very sorry you have two ailing children.  Curious if the rare diseases are autoimmune?


Diffuse Scleroderma Diagnosed March 2009

#3 Joelf

Joelf

    Star Ruby Member

  • ISN Root Admin
  • PipPipPipPipPipPipPipPipPipPipPipPipPip
  • 4,610 posts
  • Location:West Sussex

Posted 24 March 2016 - 09:13 PM

Hi Dechri,

Welcome to the forums!

I'm sorry to hear that you're experiencing so many worrying and unpleasant symptoms and it must be especially hard to have health problems with your children as well.

Although many of the symptoms you describe can be present with scleroderma, equally they can relate to other illnesses as well. What does complicate matters is that it is quite possible to have negative blood tests and yet still go on to develop scleroderma and vice versa . Such is the complex nature of the disease.

We do recommend that our members consult a listed scleroderma expert as this disease does require specialist knowledge and expertise.

I do hope that after further investigation you will find that your fears are groundless.

Kind regards,


Jo Frowde
ISN Assistant Webmaster

SD World Webmaster
ISN Sclero Forums Manager
ISN News Manager

ISN Hotline Support Specialist
ISN Chat Host
International Scleroderma Network (ISN)


#4 Dechri

Dechri

    Newbie

  • Topic Starter
  • Members
  • Pip
  • 4 posts

Posted 25 March 2016 - 04:01 PM

Kathy,

Actually they are not primarily autoimmune. One child has Ehler Danlos Syndrome and Eosinophilic Esophagitis. The Eosinophilic Gastrointestinal Diseases are kind of autoimmune (body recognizes some foods as pathogens and attacks the GI tract) but after much study they still fall under the Allergic umbrella vs AutoImmune. She is 8.

My other daughter also has Ehler-Danlos Syndrome, as well as Chiari Malformation. She had brain surgery last year which helped. She has a multitude of ongoing symptoms that don't seem related to either, that doctors are still trying for figure out. We are awaiting results on Whole Exome Sequencing. All blood work (she has done every 6 months due to misc things like kidney cysts of unknown cause, etc) for autoimmune markers is always negative. She is 5.

My oldest is healthy and my youngest (we have 4 total) is mainly healthy (he has idiopathic angiodema and irregular colon polyps they can't really figure out the cause of). None of my kids have had positive autoimmune markets, elevated SED rate, nothing.

We don't have a family history of autoimmune conditions. We actually have decently healthy family trees, as far as we know.

#5 Dechri

Dechri

    Newbie

  • Topic Starter
  • Members
  • Pip
  • 4 posts

Posted 25 March 2016 - 04:09 PM

Joelf,

Thanks for that link. I'm a big advocate of getting to a specialist as soon as is reasonable. We travel out of state for both my kids' health issues, in order to find the best specialists for those conditions.

May I ask you specific question? We don't have any specialists in our state ( for scleroderma) so would have to travel. I obviously don't want to do that based on symptoms and the podiatrist's hunch. Would you (personally, obviously not looking for medical advice, but simply an opinion based on experience) wait a few weeks to see the local Rheumy and get her opinion, then reach out to the expert? Or would you go ahead and make the effort to see a specialist initially? I'm admittedly someone who would ignore or downplay issues with myself until they were significant, likely because so much bandwidth goes to caring for the kids. The worst scenario for me is knowing something is wrong and continuing to change my body and not knowing why. Pushing through the diagnosis process, regardless of outcome, I can do. I just want to do it in the way that makes the most sense.

Does that make sense?

#6 Joelf

Joelf

    Star Ruby Member

  • ISN Root Admin
  • PipPipPipPipPipPipPipPipPipPipPipPipPip
  • 4,610 posts
  • Location:West Sussex

Posted 26 March 2016 - 10:28 AM

Hi Dechri,

 

Please bear in mind that I have no actual medical knowledge (except a now out of date first aid certificate and a penchant for telling my doctors how to do their job :wink:). However, I would advise going to the scleroderma expert first, mainly because scleroderma is such a complex disease and not all rheumatologists are familiar with all its little idiosyncrasies.

 

I have scleroderma lung involvement and when I was first diagnosed, I was very relieved that I had been sent to a top lung specialist and thereafter a scleroderma specialist, as I felt I had a medical team in whom I could have confidence.

 

Kind regards,


Jo Frowde
ISN Assistant Webmaster

SD World Webmaster
ISN Sclero Forums Manager
ISN News Manager

ISN Hotline Support Specialist
ISN Chat Host
International Scleroderma Network (ISN)


#7 Dechri

Dechri

    Newbie

  • Topic Starter
  • Members
  • Pip
  • 4 posts

Posted 27 March 2016 - 01:46 PM

I appreciate your advice, and absolutely won't take as medical advice.

I feel like I am in an awkward space of knowing something isn't right and needing to get to the right doctor, but also not wanting to pigeon hole myself into "must be scleroderma" based on the podiatrist's 2 cents. Have you found, just based on watching people's experiences unfold on here, that the scleroderma experts are also valuable at helping with direction when it ISN'T scleroderma? I'm guessing they see a good amount of "I have scleroderma symptoms" patients that end up having something else.

I have a mild paranoia, based on experiences with my kids, that we wait months, spend money and travel, chasing a specific condition that one doctor had a hunch on, only to find out it was something different and we missed the boat. Does that make sense? (I'm over tired and typing in run-on sentences)

#8 Joelf

Joelf

    Star Ruby Member

  • ISN Root Admin
  • PipPipPipPipPipPipPipPipPipPipPipPipPip
  • 4,610 posts
  • Location:West Sussex

Posted 28 March 2016 - 02:18 AM

Hi Dechri,

 

Well, from what some of our members have posted on the Forums, we find that many of them do have a lot of trouble getting a diagnosis in the first place, which is why we recommend that they try and consult a scleroderma expert. By the time some poor souls actually get to see their expert, they've been diagnosed with other autoimmune diseases, as unfortunately a scleroderma diagnosis isn't an exact science. Also the disease can have overlaps with other autoimmune and connective tissue diseases, so it can be that a patient can receive a diagnosis based on their blood tests and clinical signs and yet later on down the line the diagnosis can be changed again and again, depending on how the disease progresses or not.

 

Ultimately, it's down to your own choice as to whether you consult your rheumatologist first or go straight to the scleroderma expert.

 

Kind regards,


Jo Frowde
ISN Assistant Webmaster

SD World Webmaster
ISN Sclero Forums Manager
ISN News Manager

ISN Hotline Support Specialist
ISN Chat Host
International Scleroderma Network (ISN)


#9 Shelley Ensz

Shelley Ensz

    Root Administrator

  • ISN Root Admin
  • PipPipPipPipPipPipPipPipPipPipPipPip
  • 3,275 posts
  • Location:Minnesota

Posted 30 March 2016 - 12:11 PM

Hi Dechri,

 

One aspect to consider is that some scleroderma experts only see people who are referred by another rheumatologist.  Often they will request complete medical records before agreeing to take on a case. So it can be very helpful to have various symptoms tracked down and documented.

 

Consulting a board certified dermatologist for skin issues can be helpful. Be sure to take (good) photos of any skin abnormalities, such as rashes or discoloration. If your doctor recommends vascular lab testing to prove Raynaud's, or any tests that could nail down one of your symptoms, jump on it.

 

Regularly request your medical records so that you have any pertinent ones available for consultations.

 

Probably the vast majority of scleroderma patients first see local rheumatologists.  Very often they get diagnosed with something that is more common or that the rheumatologist is more familiar with, such as fibromyalgia or lupus. I'm not saying don't trust local rheumatologists, but if you have very clear symptoms of scleroderma, such as skin tightness or pulmonary fibrosis, also maintain enough wherewithal to consult a scleroderma expert, and get their input on the matter.

 

Connective tissue diseases can take years to manifest and develop.  The languid course usually offers plenty of time for patients and doctors alike to debate what is, what is developing, or what was misdiagnosed.  So getting individual symptoms diagnosed and documented and treated as they arise, is the most common course of action.  It is very rare for people to get such prompt diagnosis as Jo, and her case was helped along substantially by getting referred to the proper experts immediately.

 

:hug-group:


Warm Hugs,

Shelley Ensz
Founder and President
International Scleroderma Network (ISN)
Hotline and Donations: 1-800-564-7099

The most important thing in the world to know about scleroderma is sclero.org.